Detalhe da pesquisa
1.
ZNF668 deficiency causes a recognizable disorder of DNA damage repair.
Hum Genet
; 140(9): 1395-1401, 2021 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34313816
2.
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Genome Biol
; 21(1): 145, 2020 06 17.
Artigo
Inglês
| MEDLINE | ID: mdl-32552793